Translocation Y;21 in an infertile male patient having 45, X karyotype: Case report

Autor: Lale Şatiroğlu Tufan, C. Nur Semerci, Tarkan Kalkan, Gülseren Bağci, Metin Eser, Özkan Öztürk, G. Ozan Çetin
Jazyk: angličtina
Rok vydání: 2012
Předmět:
DOI: 10.5336/medsci.2011-23453
Popis: A 30-year-old male patient referred to our clinic for unraveling the underlying etiology of the azoospermia. He had no unusual medical history. At physical examination, obesity, short neck and gynecomastia were noted. All hormone levels were normal except estradiol which was 2-fold higher than the upper limit. Having azoospermia in the spermiogram, scrotal ultrasonography was normal. Cytogenetic analysis and fluorescence in situ hybridization were performed subsequently, 45,X,add(21)(p10) and 45,X,add(21)(p10).ish der(Y;21) (q12;p10) were found, respectively. On C-banding, dicentric staining of translocated chromosome was observed. NOR banding was negative. Molecular genetics studies using multiplex polymerase chain reaction revealed the presence of Y chromosome sequences at SRY, AZFa, AZFb, AZFc regions. © 2012 by Türkiye Klinikleri.
Databáze: OpenAIRE